Holoprosencephaly and Holoprosencephaly-Like Phenotypes: Review of Facial and Molecular Findings in Patients From a Craniofacial Hospital in Brazil

Here we report on the clinical and genetic data for a large sample of Brazilian patients studied at the Hospital de Reabilitacao de Anomalas Craniofaciais-Universidade de Sao Paulo (HRAC-USP) who presented with either the classic holoprosencephaly or the holoprosencephaly-like (HPE-L) phenotype. The sample included patients without detected mutations in some HPE determinant genes such as SHH, GLI2, SIX3, TGIF, and PTCH, as well as the photographic documentation of the previously reported patients in our Center. The HPE-L phenotype has been also called of HPE ``minor forms"" or ""microforms,"" The variable phenotype, the challenge of genetic counseling, and the similarities to patients with isolated cleft lip/palate are discussed. (c) 2010 Wiley-Liss, Inc.

Clustering Lab value working with medical data

Data mining is a relatively new field of research that its objective is to acquire knowledge from large amounts of data. In medical and health care areas, due to regulations and due to the availability of computers, a large amount of data is becoming available [27]. On the one hand, practitioners are expected to use all this data in their work but, at the same time, such a large amount of data cannot be processed by humans in a short time to make diagnosis, prognosis and treatment schedules. A major objective of this thesis is to evaluate data mining tools in medical and health care applications to develop a tool that can help make rather accurate decisions. In this thesis, the goal is finding a pattern among patients who got pneumonia by clustering of lab data values which have been recorded every day. By this pattern we can generalize it to the patients who did not have been diagnosed by this disease whose lab values shows the same trend as pneumonia patients does. There are 10 tables which have been extracted from a big data base of a hospital in Jena for my work .In ICU (intensive care unit), COPRA system which is a patient management system has been used. All the tables and data stored in German Language database.

Medical students’ knowledge, attitudes, and perceptions on contraceptive use and counselling : a cross-sectional survey in Maharashtra, India

Objectives. This study aimed to investigate the knowledge, attitudes and perceptionstowards contraceptive use and counselling among medical students in Maharashtra, India. Setting. Considerable global maternal mortality and morbidity could be avoided through theuse of effective contraception. In India, contraception services are frequently unavailable or there are obstacles to obtaining modern, reversible contraceptives. Participants. A cross-sectional descriptive study using a self-administered questionnaire was conducted among 1996 medical students in their fifth year of study at 27 medical colleges in the state of Maharashtra, India. Descriptive and analytical statistics interpreted the survey instrument and significant results were presented with 95% CI. Results. Respondents expressed a desire to provide contraceptive services. A few studentshad experienced training in abortion care. There were misconceptions about moderncontraceptive methods and the impact of sex education. Attitudes towards contraceptionwere mainly positive, premarital counselling was supported and the influence of traditional values and negative provider attitudes on services was recognised. Gender, area of upbringing and type of medical college did not change the results. Conclusions. Despite mostly positive attitudes towards modern contraceptives, sex education and family planning counselling, medical students in Maharashtra have misconceptions about modern methods of contraception. Preservice and in-service training in contraceptive counselling should be implemented in order to increase women's access to evidence-based maternal healthcare services.

Medical treatment and the good death: an ethical analysis of euthanasia, physician assisted suicide, and the right to die

Frequent advances in medical technologies have brought fonh many innovative treatments that allow medical teams to treal many patients with grave illness and serious trauma who would have died only a few years earlier. These changes have given some patients a second chance at life, but for others. these new treatments have merely prolonged their dying. Instead of dying relatively painlessly, these unfortunate patients often suffer from painful tenninal illnesses or exist in a comatose state that robs them of their dignity, since they cannot survive without advanced and often dehumanizing forms of treatment. Due to many of these concerns, euthanasia has become a central issue in medical ethics. Additionally, the debate is impacted by those who believe that patients have the right make choices about the method and timing of their deaths. Euthanasia is defined as a deliberate act by a physician to hasten the death of a patient, whether through active methods such as an injection of morphine, or through the withdrawal of advanced forms of medical care, for reasons of mercy because of a medical condition that they have. This study explores the question of whether euthanasia is an ethical practice and, as determined by ethical theories and professional codes of ethics, whether the physician is allowed to provide the means to give the patient a path to a "good death," rather than one filled with physical and mental suffering. The paper also asks if there is a relevant moral difference between the active and passive forms of euthanasia and seeks to define requirements to ensure fully voluntary decision making through an evaluation of the factors necessary to produce fully informed consent. Additionally, the proper treatments for patients who suffer from painful terminal illnesses, those who exist in persistent vegetative states and infants born with many diverse medical problems are examined. The ultimate conclusions that are reached in the paper are that euthanasia is an ethical practice in certain specific circumstances for patients who have a very low quality of life due to pain, illness or serious mental deficits as a result of irreversible coma, persistent vegetative state or end-stage clinical dementia. This is defended by the fact that the rights of the patient to determine his or her own fate and to autonomously decide the way that he or she dies are paramount to all other factors in decisions of life and death. There are also circumstances where decisions can be made by health care teams in conjunction with the family to hasten the deaths of incompetent patients when continued existence is clearly not in their best interest, as is the case of infants who are born with serious physical anomalies, who are either 'born dying' or have no prospect for a life that is of a reasonable quality. I have rejected the distinction between active and passive methods of euthanasia and have instead chosen to focus on the intentions of the treating physician and the voluntary nature of the patient's request. When applied in equivalent circumstances, active and passive methods of euthanasia produce the same effects, and if the choice to hasten the death of the patient is ethical, then the use of either method can be accepted. The use of active methods of euthanasia and active forms of withdrawal of life support, such as the removal of a respirator are both conscious decisions to end the life of the patient and both bring death within a short period of time. It is false to maintain a distinction that believes that one is active killing. whereas the other form only allows nature to take it's course. Both are conscious choices to hasten the patient's death and should be evaluated as such. Additionally, through an examination of the Hippocratic Oath, and statements made by the American Medical Association and the American College of physicians, it can be shown that the ideals that the medical profession maintains and the respect for the interests of the patient that it holds allows the physician to give aid to patients who wish to choose death as an alternative to continued suffering. The physician is also allowed to and in some circumstances, is morally required, to help dying patients whether through active or passive forms of euthanasia or through assisted suicide. Euthanasia is a difficult topic to think about, but in the end, we should support the choice that respects the patient's autonomous choice or clear best interest and the respect that we have for their dignity and personal worth.

Infecção hospitalar no Centro de Tratamento Intensivo Geral de um hospital escola da Região Sul do Brasil

Objetivos Avaliamos a incidência de infecção hospitalar no CTI clínico-cirúrgico de um hospital escola no sul do Brasil. Foram utilizadas taxas ajustadas para o tempo de permanência dos pacientes e para o tempo de exposição aos procedimentos invasivos. Também investigamos a influência da causa básica de internação (trauma, neurológico e clínico-cirúrgico) nas taxas de infecções. Material e Métodos Os pacientes internados no CTI Clínico-cirúrgico de março a dezembro de 1999, foram prospectivamente seguidos para a detecção de infecção hospitalar. Para o diagnóstico de infecção hospitalar utilizou-se as definições do Centro de Controle e Prevenção de Doenças dos EUA (CDC) e as taxas foram calculadas de acordo com a metodologia NNIS (Sistema Nacional de Vigilância Epidemiológica). Resultados Foram acompanhados 686 pacientes (4201 pacientes-dia). Ocorreram 125 infecções hospitalares, sendo que a incidência global foi de 18,2% ou 29,8 infecções por 1000 pacientes-dia. Os sítios de infecção mais freqüente foram: pneumonia (40%), infecção urinária (24%) e septicemia primária (12,8%). As taxas de infecções hospitalares, associadas aos procedimentos invasivos, foram as seguintes: 32,2 pneumonias por 1000 ventiladores mecânico-dia, 9,7 infecções urinárias por 1000 sondas vesicais-dia e 7 septicemias por 1000 cateteres venosos centrais-dia. A incidência global de infecção nos pacientes com trauma (26,8) e neurológicos (20,7%) foi superior quando comparada com o grupo clínico-cirúrgico (12,2%), p < 0,001. Conclusões Encontramos altas taxas de infecções relacionadas com os procedimentos invasivos neste CTI. A causa básica de internação influenciou as taxas de infecção, sugerindo a necessidade de analisar-se estratificadamente os pacientes em CTI clínico-cirúrgico.

A percepção de valor de uma biblioteca médica digital para o embasamento das condutos assistenciais adotadas em um hospital privado no Rio de Janeiro

Este estudo foi desenvolvido em um hospital privado, no Rio de Janeiro, com o intuito de demonstrar o valor de uma biblioteca médica digital, como ferramenta de suporte para fundamentação científica das condutas assistenciais adotadas pela equipe médica, que resultaram em glosas técnicas e perda de faturamento para a instituição. Para isso, por meio do método revisão integrativa, foi coletada a literatura clínica referente às glosas, ocorridas durante o período de janeiro a setembro de 2014, e analisada sob a perspectiva do modelo conceitual apresentado pela Cochrane (LEFEBVRE et al., 2011) que identifica o nível da evidência científica e estabelece o seu grau de recomendação para a prática clínica. Durante a análise de conteúdo, considerando as técnicas propostas por Bardin (1977), foram identificadas as evidências científicas que conferem valor à prática assistencial, conforme proposto pelo modelo conceitual. Além disso, o valor dos itens glosados foi incluído na análise dos resultados, reforçando a tendência do estudo para a validação do modelo conceitual que recomenda a prática clínica baseada em evidências científicas para geração de resultados mais efetivos e de melhor custo/benefício na saúde. Com base nos achados, são discutidas as implicações teóricas e práticas, assim como sugestões para futuros estudos sobre o tema.

A implementação de escritório da qualidade em hospital de pequeno porte

O tema qualidade na área da saúde vem sendo cada vez mais debatido em algumas regiões do Brasil e do mundo. Existe um significativo hiato entre a teoria discutida e a prática observada na maioria dos hospitais. No Brasil, alguns hospitais de grande porte das regiões Sul e Sudeste têm sido pioneiros na implantação de iniciativas voltadas à qualidade. Entretanto, mais de 60% dos hospitais brasileiros são de pequeno porte, reconhecidamente, em média, de pior desempenho que os maiores. O presente trabalho pretende analisar um caso de implantação de um novo serviço em organização hospitalar de pequeno porte, no estado de São Paulo, pertencente à uma cooperativa médica. O objetivo geral é aprofundar a compreensão de como se implementa um escritório de qualidade, com base nas percepções de atores envolvidos no processo, bem como as principais oportunidades e barreiras para seu funcionamento. A pesquisa foi exploratória, com metodologia qualitativa, composta por catorze entrevistas semiestruturadas aplicadas a uma amostra de todos os participantes do processo, bem como pela observação não participante de atividades desenvolvidas no local. Os principais impulsionadores identificados foram: envolvimento dos funcionários, treinamentos e alguma autonomia para o escritório de qualidade. As principais barreiras foram: falta de apoio da gestão, inexistência de cultura de qualidade, comunicação ineficiente.

Pacientes de alta que permanecem dentro do hospital: quem são e por que permanecem?

A existência de hospitais específicos para pacientes de longa permanência se justifica pela necessidade de profissionais e cuidados especializados na sua assistência. O processo que leva à alta hospitalar nessas instituições tem se mostrado mais complexo do que apenas a estabilização do quadro clínico, incluindo fatores que adiam a saída do paciente. O objetivo desta dissertação é identificar os motivos pelos quais pacientes de alta hospitalar permanecem internados dentro de um hospital público de longa permanência situado na Grande São Paulo, na região do Alto Tiete. Um estudo exploratório descritivo transversal identificou 1.211 internações entre janeiro de 2011 e dezembro de 2014, sendo a média de idade de 53,9 anos e com predomínio do sexo masculino (62,7%). Das 822 internações analisadas, ocorreram “atrasos” na saída em 466 casos (56,7%). A média de atraso foi de 19,1 dias (variação de 1 a 606 dias), gerando um total de 8.895 pacientes-dia que poderiam ter sido evitados. Os principais motivos de atraso foram: transporte familiar (39,7%), aguardo de ambulância (14,8%), suporte da rede (12,7%), resistência familiar para saída (12,4%) e adequação de casa/equipamentos (9,4%). Foram propostas formas que poderiam acarretar em diminuição do período de internação hospitalar, uma vez que essa atuação é resultado de combinações de diversos fatores em diferentes áreas. Entretanto, as medidas que devem ser tomadas fundamentam-se num adequado entendimento do sistema de saúde local, do contexto cultural e da legislação vigente.

Estudo da frequência e perfil epidêmico-sorológico da toxoplasmose ocular em pacientes atendidos no ambulatório de oftalmologia do hospital universitário onofre lopes no município de Natal, Rio Grande do Norte

Toxoplasmosis, provoked by the intracellular parasite Toxoplasma gondii, is one of the most prevalent parasitoses in the world. In humans, transmission occurs by three evolutionary forms of the parasite: oocysts, tissue cysts and tachyzoites. Wild and domestic felines are definitive hosts. The ocular form of toxoplasmosis can be of congenital origin with early or late clinical manifestations, or acquired after birth. T. gondii is considered the main culprit for most cases of infectious uveitis. This study aimed at assessing ocular toxoplasmosis, relating it to factors associated to the patient s lifestyle and describing the epidemic-serological and clinical profile of affected individuals. A cross-sectional study was conducted with a population of 159 patients. Univariate analysis (odds ratio) was used to evaluate the data, with a confidence interval of 95% and p-value < 0.05. A prevalence of 4% of ocular toxoplasmosis was observed in the population of patients treated at an ophthalmological clinic. Of patients directly examined by immunoenzymatic assay (MEIA-AxSYM®- Microparticle Enzyme Immune Assay), considering only uveitis, a frequency of anti-T. gondii of 73%, most of whom exhibited titulation between 40-99 UI IgG/mL. With respect to location of ocular lesions, bilaterality was observed in 57% of patients assessed by the ophthalmoscopy technique. When compared with the results of an active search of medical records, a similarity in ocular toxoplasmosis (74%) and bilateral lesion location (55%) was observed. Type I lesion was the most frequent type observed, with intraocular disposition in the macula. An epidemiological survey revealed that direct contact with cats; consuming raw or poorly cooked meat and direct contact with the soil were significantly associated with greater likelihood of acquiring ocular toxoplasmosis. Sample characterization in relation to age range was significant for patients between 31 and 40 years [χ², chi-square test (p = 0.04)], but population traits such as schooling, sanitary district, and monthly income were not significant. Results confirm that ocular toxoplasmosis is widely distributed in the metropolitan area of Natal, Brazil, with significant prevalence of ocular lesions provoked by T.gondii. It is suggested that sanitary authorities exert greater control in order to minimize the risk of toxoplasmic infection, mainly in pregnant women.

Hospital humano: etnografia da humanização hospitalar na perspectiva de usuários

This ethnographic work studies the experiences of patients admitted in public (PUH) and private (PRH) hospitals in the Brazilian northeastern region. 28 adult patients of different clinics participated in the study. Data were analyzed by the patient path method, consisting in a combination of complemented and articulated techniques free observation, participating observation, ethnographic interview and patient testimonials collected prospectively during the patients admissions, from their arrival and until their discharge. The analysis was carried out according to the Thematic Categories Analysis Technique and the data were interpreted pursuant to medical anthropology, healthcare humanization and healthcare promotion theoretical references. The ethical principles of Resolution 196/96 were followed. The human hospital, as revealed by the patient, highlights the significance of subjectivity. 225 (54.7%) out of 411 mentioned concepts were collected in a public hospital (PUH) and 186 (45.3%) in a private institution (PRH). The results show that the patient at the PUH and PRH ethnoevaluates different aspects of the healthcare professionals´ human and technical competence, the hospital´s functioning structure, the access to and the ethics in the financial management, and develops overcoming strategies for his stay at the hospital. This ethnoevaluation is mediated by different factors, namely: social and economic status, personality, religiosity, ironic speech, somber diagnosis and satisfied needs, prior hospital experiences and the conditions under which the interview was carried out. A pedagogic proposal for the hospital humanization must include structural, managerial and organizational changes of the offered services and use active methodologies aimed to the political resolution of problematic situations at work and the inclusion of affective and subjective factors, and become as well a tool for the collective learning. This study shows the importance for the user´s ethnoevaluation to be incorporated into the hospital management and care as a guideline in the decision making and clinical action, thus promoting practices that shall lead to a decent and humanized care. The multidisciplinary nature of this study allowed a wide understanding of the user´s perspective as a socially critical ethnoevaluator

Infecção hospitalar associada ao uso de cateter venoso central e a quebra de protocolos pelos profissionais de saúde na UTI de um hospital universitário em Natal/RN

This is a study descriptive cross-sectional and quantitative approaches, which aimed to analyze the association between hospital infection rate for insertion, maintenance of central venous catheter and the breakdown of protocols (rules and routines) by health professionals assisting patients in the ICU of a university hospital in Natal / RN. The process of data collection was through observation with structured form, refers to medical records and structured questionnaires with health professionals. The results were organized, tabulated, categorized and analyzed using SPSS 14.0. The characterization of the subjects was performed using descriptive and inferential statistics, taking into account the nature of the variables, with analysis of variance (ANOVA) and Spearman correlation test, it was a discussion of the information obtained, considering the mean, standard deviation, coefficient of variance and standard error. The variables that showed a higher level of correlation were treated with the application of significance tests. As the results, 71% of participants were female and 29% male, age ranged from 18 to 85 years (52.6 ± 22.5). The insertion, there was a variation from 0 to 5 errors (1.2 ± 1.4), during maintenance, the average was 2.3 ± 0.9 errors, ranging from 0 to 4. During the insertion and maintenance of CVC, patients who had been an infection ranging from 2 to 9 mistakes (4.2 ± 1.7), since those who did not show the variation goes from 0 to 5 errors (2, 8 ± 1.5). The correlation coefficient between the risk of infection throughout the process and the risk of infection at the insertion showed strong and significant (r = 0.845 p = 0.000) and in relation to risk of infection in maintenance was moderate and significant (r = 0.551 p = 0.001). The mistakes made by professionals in the procedures for insertion and maintenance of the catheter, associated with other conditions, shown as a risk factor for the of IH

Frequência de retinopatia da prematuridade em recém-nascidos no Hospital das Clínicas da Faculdade de Medicina de Ribeirão Preto da Universidade de São Paulo

OBJETIVOS: Determinar a frequência de retinopatia da prematuridade no Hospital das Clínicas da Faculdade de Medicina de Ribeirão Preto (HCFMRP-USP) e verificar a associação da retinopatia da prematuridade com fatores de risco conhecidos. MÉTODOS: Foi realizada análise prospectiva de 70 pacientes, nascidos no HCFMRP-USP, com peso inferior a 1.500 gramas, no período de um ano. Os pacientes foram divididos em dois grupos (Retinopatia da prematuridade e Normal) para realização de análise estatística com relação a fatores de risco conhecidos. Adotou-se nível de significância de 5%. RESULTADOS: A frequência de retinopatia da prematuridade foi de 35,71% entre os pré-termos estudados. Os fatores pesquisados que apresentaram relação de risco para o desenvolvimento da doença foram: peso (p=0,001), idade gestacional (p=0,001), escore SNAPPE II (p=0,008), uso de oxigenoterapia por intubação (p=0,019) e por pressão positiva de vias aéreas (p=0,0017), múltiplas transfusões sanguíneas (p=0,01) e uso de diuréticos (p=0,01). CONCLUSÃO: A frequência de retinopatia da prematuridade foi de 35,71% entre os prétermos nascidos com menos de 1.500 g. Vários fatores de risco foram identificados nos recém-nascidos do HCFMRP-USP, sendo constatado que crianças mais pré-termos apresentam formas mais graves de retinopatia da prematuridade.